DISEASES

Disease-gene associations mined from literature

Literature associating ELMO2 and familial hemophagocytic lymphohistiocytosis 2

ELMO2 [ENSP00000290246]

Engulfment and cell motility protein 2; Involved in cytoskeletal rearrangements required for phagocytosis of apoptotic cells and cell motility. Acts in association with DOCK1 and CRK. Was initially proposed to be required in complex with DOCK1 to activate Rac Rho small GTPases. May enhance the guanine nucleotide exchange factor (GEF) activity of DOCK1.

Synonyms:  ELMO2,  ELMO2p,  hELMO2,  H0YCM7,  Q5JVZ4 ...

Linkouts:  STRING  Pharos  UniProt  OMIM